E-ISSN 2534-9821
 
2023, Vol: 7, Issue: 11
7 / 11Current Issue Online FirstArchiveAims and ScopeAbstracting & IndexingMost Accessed ArticlesMost Downloaded ArticlesMost Cited Articles
Required files to be uploaded

Copyright Transfer Form

Case Report
Online Published: 05 Sep 2019
 


Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review

Arnab Nandy, Tiswampati Naskar, Debadyuti Datta, Prasanta Sardar.


Abstract
Introduction: Phenotypically normal pre-pubertal girl presenting with only a little delay in onset of puberty and emotional lability is seldom thought to be suffering from a serious underlying congenital defect at the outset. Amongst different congenital causes for such presentation, Mayer-Rokitansky-Küster-Hauser syndrome is scarcely reported so far. This condition usually manifests with primary amenorrhoea and infertility in phenotypically and karyotypically normal 46, XX females. In the atypical form of this syndrome additional congenital malformations involving mostly renal and skeletal systems are noticed along with Mullerian dust dysgenesis.
Case description: A 12-year-old girl attended the adolescent clinic with complaints of generalised weakness, inadequate height gains and emotional lability. Initial clinical examination recorded genu valgus and absence of pubertal growth spurt. Subsequently, blood hormonal assay depicted hypergonadotropic hypogonadism state. Bilateral absence of gonads and Mullerian duct anomalies were detected further in an otherwise normal female karyotype (46, XX). No additional structural anomaly noticed. Developmental quotient assessment suggested intellectual disability.
Conclusions: A stepwise approach incidentally revealed a rare condition like atypical form of MRKH syndrome where bilateral gonadal agenesis and Mullerian duct dysgenesis were present but without any additional congenital malformations. Assessment of cognitive function in such cases should be sought for. Early detection of such rare case helps in building the emotional support of the family members in advance, long before the time when the patient might eventually present with primary amenorrhoea or infertility.

Key words: 46, XX karyotype, Anomalies, Congenital defect, Gonadal agenesis, Intellectual disability, Mentally retarded, Paramesonephric derivatives


 
ARTICLE TOOLS
Abstract
PDF Fulltext
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Arnab Nandy
Articles by Tiswampati Naskar
Articles by Debadyuti Datta
Articles by Prasanta Sardar
on Google
on Google Scholar


How to Cite this Article
Pubmed Style

Nandy A, Naskar T, Datta D, Sardar P. Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review. Int J Med Rev Case Rep. 2019; 3(8): 535-541. doi:10.5455/IJMRCR.Atypical-MRKH-syndrome-with-aberrant-cognition

Web Style

Nandy A, Naskar T, Datta D, Sardar P. Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review. https://www.mdpub.net/?mno=44315 [Access: October 14, 2024]. doi:10.5455/IJMRCR.Atypical-MRKH-syndrome-with-aberrant-cognition

AMA (American Medical Association) Style

Nandy A, Naskar T, Datta D, Sardar P. Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review. Int J Med Rev Case Rep. 2019; 3(8): 535-541. doi:10.5455/IJMRCR.Atypical-MRKH-syndrome-with-aberrant-cognition


Vancouver/ICMJE Style

Nandy A, Naskar T, Datta D, Sardar P. Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review. Int J Med Rev Case Rep. (2019), [cited October 14, 2024]; 3(8): 535-541. doi:10.5455/IJMRCR.Atypical-MRKH-syndrome-with-aberrant-cognition


Harvard Style

Nandy, A., Naskar, . T., Datta, . D. & Sardar, . P. (2019) Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review. Int J Med Rev Case Rep, 3 (8), 535-541. doi:10.5455/IJMRCR.Atypical-MRKH-syndrome-with-aberrant-cognition


Turabian Style

Nandy, Arnab, Tiswampati Naskar, Debadyuti Datta, and Prasanta Sardar. 2019. Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review. International Journal of Medical Reviews and Case Reports, 3 (8), 535-541. doi:10.5455/IJMRCR.Atypical-MRKH-syndrome-with-aberrant-cognition


Chicago Style

Nandy, Arnab, Tiswampati Naskar, Debadyuti Datta, and Prasanta Sardar. "Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review." International Journal of Medical Reviews and Case Reports 3 (2019), 535-541. doi:10.5455/IJMRCR.Atypical-MRKH-syndrome-with-aberrant-cognition


MLA (The Modern Language Association) Style

Nandy, Arnab, Tiswampati Naskar, Debadyuti Datta, and Prasanta Sardar. "Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review." International Journal of Medical Reviews and Case Reports 3.8 (2019), 535-541. Print. doi:10.5455/IJMRCR.Atypical-MRKH-syndrome-with-aberrant-cognition


APA (American Psychological Association) Style

Nandy, A., Naskar, . T., Datta, . D. & Sardar, . P. (2019) Ovarian agenesis and Mullerian duct dysgenesis in a karyotypically normal (46, XX) pre-pubertal girl with aberrant cognition: A case report and literature review. International Journal of Medical Reviews and Case Reports, 3 (8), 535-541. doi:10.5455/IJMRCR.Atypical-MRKH-syndrome-with-aberrant-cognition


Author LoginReviewer LoginAbout PublisherEditorial PoliciesEditorial Review PolicyPeer Review PolicyEditorial & Peer Review ProcessAuthor's Rights and ObligationsPublication Ethics and Publication Malpractice StatementConflict of Interest PolicyPlagiarism PolicyProtection of Research Participants (Statement On Human And Animal Rights)Privacy PolicyCorrections, Retractions & Expressions of ConcernSelf-Archiving PoliciesDigital Archiving & Preservation PoliciesStatement of Informed ConsentAdvertising PolicyTerms of UseLicense InformationCopyright Information

About International Journal of Medical Reviews and Case Reports

International Journal of Medical Reviews and Case Reports  (Int J Med Rev Case Rep)ISSN: 2534-9821The International Journal of Medical Reviews and Ca ... Read more.



For best results, please use Internet Explorer or Google Chrome.

Contact Information


Any correspondence, queries or additional requests for information on the manuscript submission process should be sent to the International Journal of Medical Reviews and Case Reports editorial office as follows:

Bulgarian Association of Young Surgeons (BAYS);

National Center of Public Health and Analyses (NCPHA), floor 2, office № 31,  Sofia 1431, Bulgaria.

inkov@journalmedica.com

Financial department is managed by International Sci Ink Press. 

It is a company registered in Bulgaria with registered no. 205414288 and registered address at 57 Antim I str., Vazrazhdane, Sofia, 1303, Bulgaria.

Tel: +359883427500